The human genome project has been undertaken with the expectation that the sequences of genes that comprise the genome are determinants of individual development, health, and disease. Variation in gene sequences, variations in the level, location, or timing of expression of a gene, and variation in the physical, chemical, or dynamic characteristics of the products expressed from a gene are known to underlie many aspects of human individuality including physical and mental characteristics, growth, longevity, health, and disease. An objective of genomic research is the discovery, development and implementation of genetic tests that can be used to determine how the genes of an individual predispose that individual to various clinical outcomes. Genetic tests are expected to have a central role in routine health, wellness, and disease management, enabling predisposition testing and interventions to prevent disease, providing early diagnosis, and optimizing pharmacological interventions with drugs that are likely to be safe and effective for an individual.
The utilization of genetic tests and the interpretation of genetic tests results are more complex than conventional diagnostic testing. The number of genetic tests that will be available from human genomic research is very large compared to the number of conventional diagnostic tests. The genome project is expected to reveal 30,000-100,000 genes and >10,000,000 discrete genetic variations that may be developed into genetic tests with utility in predicting specific health outcomes. Few individuals or healthcare practitioners are familiar with the many genes different already known to be associated with specific health outcomes. Few have the ability to remain current with the rapidly emerging literature in this field. The effective and ethical use of genetic tests requires that individuals have sufficient information about the tests to decide whether to have the test done and to make efficacious use of the test result. This requires that individuals have access to information concerning the potential benefits of genetic testing, the procedures involved in genetic testing, and the potential risks to health and privacy. Because of the unique nature of genetic testing, good medical practice and statutory requirements in some states require that an informed consent be obtained from an individual before a sample is obtained and a genetic test is performed. To provide a valid informed consent, an individual must have been given and must retain and understand sufficient information concerning the test, the DNA sample, the potential use of genetic information that may be obtained from the sample, and the potential benefits and risks associated with the test to make an informed decision regarding the test.
Genetic testing is typically initiated by health care practitioners (including primary or subspecialty physicians or practitioners specialized in genetics, such as MD, PhD, or MA/MS trained geneticists or genetic counselors), and informed consent is obtained by the practitioner during a meeting with the individual. During this meeting, the practitioner must provide the individual with information sufficient for the individual to make an informed choice and to certify their consent to the testing procedure. After certification, samples are typically obtained by the health care practitioner or a designated blood drawing facility and tests are then performed by certified laboratories. The test result is reported from the laboratory to the practitioner and/or to the individual. Many practitioners do not have sufficient training in genetics, knowledge relating to individual genetic tests, or time to adequately provide individuals with the information required to provide a legally binding informed consent.
The process of obtaining informed consent is described in many textbooks, articles, reports, and recommendations. In current practice, information about genetic tests is collected by practitioners and individuals from a variety of sources including textbooks of medicine or genetics, as well as articles in medical journals, courses for continuing medical education, government agencies, disease advocacy groups, biotechnology companies, academic research groups, the Internet, and articles in the lay press. This information, as well as information about the process of obtaining a genetic test, and the use of genetic test results is discussed with the individual in an ad hoc manner. Many sources of information are written at a level appropriate for healthcare practitioners. Few are appropriate for individuals in the general public. Moreover, information gleaned from multiple sources is often conflicting and incomplete. Few sources of information are validated in clinical studies to demonstrate that the content and mode of presentation results in comprehension and retention by the individual.
Documents by which an individual can certify their consent to a genetic test are known in the art. Such documents focus primarily on legal issues related to genetic testing such as the technical and predictive limitations of genetic testing, potential errors in diagnosis and interpretation, the disposition of the DNA sample, and the reporting of test results. Informed consent documents are typically generic, i.e., they address issues that are relevant to many different genetic tests and clinical outcomes rather than being specific to particular genetic test, genetic tests for related genes, or a specific clinical outcome.
Because of the complexity of genetic information, the widespread lack of professional training in genetics and procedures for delivering genetic services, and the lack of validated resources for providing genetic services, surveys suggest that <10% of practitioners feel that they are capable of adequately providing such services. Moreover, despite laws in some states that require informed consent be obtained before genetic tests are performed, data demonstrates that many genetic tests are performed without any informed consent being obtained or with inadequate informed consent.